rs371525247
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs371525247(A;A) |
Make rs371525247(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 88071373 |
Gene | CEP290 |
is a | snp |
is | mentioned by |
dbSNP | rs371525247 |
dbSNP (classic) | rs371525247 |
ClinGen | rs371525247 |
ebi | rs371525247 |
HLI | rs371525247 |
Exac | rs371525247 |
Gnomad | rs371525247 |
Varsome | rs371525247 |
LitVar | rs371525247 |
Map | rs371525247 |
PheGenI | rs371525247 |
Biobank | rs371525247 |
1000 genomes | rs371525247 |
hgdp | rs371525247 |
ensembl | rs371525247 |
geneview | rs371525247 |
scholar | rs371525247 |
rs371525247 | |
pharmgkb | rs371525247 |
gwascentral | rs371525247 |
openSNP | rs371525247 |
23andMe | rs371525247 |
SNPshot | rs371525247 |
SNPdbe | rs371525247 |
MSV3d | rs371525247 |
GWAS Ctlg | rs371525247 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs371525247(A;A) |
Alt | rs371525247(A;A) |
Reference | Rs371525247(G;G) |
Significance | Pathogenic |
Disease | Joubert syndrome 5 |
Variation | info |
Gene | CEP290 |
CLNDBN | Joubert syndrome 5 |
Reversed | 0 |
HGVS | NC_000012.11:g.88465150G>A |
CLNSRC | |
CLNACC | RCV000201627.1, |